TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia

Neurology

Volumn 58, Issue 1, 2002, Pages 120-124

  Walker, R H ^a,b   Brin, M F ^b   Sandu, D ^b   Good, P F ^b   Shashidharan, P ^b  

^a VETERANS AFFAIRS MEDICAL CENTER   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; TORSIN A; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; DYSTONIA; ENDOPLASMIC RETICULUM; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN LOCALIZATION;

EID: 0037039217     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.1.120     Document Type: Article

References (10)

1. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34
2. The early-onset torsion dystonia gene (DYT1) encodes an ATP binding protein
3. Immunohistochemical localization and distribution of torsinA in normal human and rat brain
4. Cellular distribution of torsin A and torsin B in normal human brain
5. Distribution and immunohistochemical characterization of torsinA-immuno-reactive neurons in rat and macaque brain
6. Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain
7. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
8. Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations
9. Severe generalized dystonia due to primary putaminal degeneration
10. TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease